Related Experiment Videos
Microcephaly with simplified gyral pattern in six related children
A Peiffer1, N Singh, M Leppert
1Department of Human Genetics, University of Utah, Salt Lake City, 84112-5330, USA.
American Journal of Medical Genetics
|May 14, 1999
Summary
This study details a rare genetic disorder in six related children with congenital microcephaly and severe intellectual disability. The findings suggest a novel neuronal proliferation disorder not linked to known genetic loci.
Area of Science:
- Genetics
- Neuroscience
- Pediatrics
Background:
- Congenital microcephaly, seizures, and severe mental retardation (MR) can result from various genetic and environmental factors.
- Known cortical malformation syndromes like lissencephaly types I and II present distinct clinical and neuroradiological features.
Purpose of the Study:
- To characterize the clinical, neurophysiological, and genetic findings in a family with a unique presentation of microcephaly and severe MR.
- To investigate potential genetic linkages to known microcephaly and lissencephaly loci.
Main Methods:
- Clinical examination and neurophysiological assessments were performed on affected children.
- Neuroradiological studies including MRI were conducted.
- Karyotypic analysis and genetic linkage studies were performed for LIS1, LIS2, and MCPH1 loci.
Main Results:
- Six related children (five girls, one boy) presented with congenital microcephaly, early-onset seizures, and severe MR.
- Physical and neuroradiological findings excluded known lissencephaly types and showed simplified gyral patterns without pachygyria.
- Genetic analyses ruled out linkage to LIS1, LIS2, and MCPH1, indicating a novel genetic cause.
Conclusions:
- The affected children likely have an unmapped neuronal proliferation disorder.
- This family's unique genetic and clinical profile expands the understanding of microcephaly and intellectual disability disorders.